Genomewide study makes ‘quantum leap’ in understanding stuttering | Science | AAAS www.science.org/content/arti... 🧪
Genomewide study makes ‘quantum leap’ in understanding stuttering
Analysis of DNA from 23andMe users points to variants in genes linked to brain function and sense of rhythm
www.science.org
July 29, 2025 at 6:19 PM
Genomewide study makes ‘quantum leap’ in understanding stuttering | Science | AAAS www.science.org/content/arti... 🧪
A high polygenic risk score (PRS) for screening prostate cancer was superior to a PSA test or MRI for detecting clinically significant disease (Gleason ≥7). A big step forward for supporting utility of PRS @nejm.org
www.nejm.org/doi/full/10....
www.nejm.org/doi/full/10....
Assessment of a Polygenic Risk Score in Screening for Prostate Cancer | NEJM
The incidence of prostate cancer is increasing. Screening with an assay of prostate-specific
antigen (PSA) has a high rate for false positive results. Genomewide association studies
have identified...
www.nejm.org
April 9, 2025 at 9:25 PM
A high polygenic risk score (PRS) for screening prostate cancer was superior to a PSA test or MRI for detecting clinically significant disease (Gleason ≥7). A big step forward for supporting utility of PRS @nejm.org
www.nejm.org/doi/full/10....
www.nejm.org/doi/full/10....
"Suggestive" P-values in GWAS aren't a thing. I, too, know the frustration of seeing a SNP associated with an interesting gene fall short of genomewide significance. But, troublesome as P-values are, if we're using them as a decision rule then they have to mean something.
September 21, 2026 at 12:58 PM
"Suggestive" P-values in GWAS aren't a thing. I, too, know the frustration of seeing a SNP associated with an interesting gene fall short of genomewide significance. But, troublesome as P-values are, if we're using them as a decision rule then they have to mean something.
Original study in New England Journal of Medicine 🧪🧬:
Assessment of a Polygenic Risk Score in Screening for Prostate Cancer
www.nejm.org/doi/full/10....
Assessment of a Polygenic Risk Score in Screening for Prostate Cancer
www.nejm.org/doi/full/10....
Assessment of a Polygenic Risk Score in Screening for Prostate Cancer | NEJM
The incidence of prostate cancer is increasing. Screening with an assay of prostate-specific
antigen (PSA) has a high rate for false positive results. Genomewide association studies
have identified...
www.nejm.org
April 10, 2025 at 6:33 AM
Original study in New England Journal of Medicine 🧪🧬:
Assessment of a Polygenic Risk Score in Screening for Prostate Cancer
www.nejm.org/doi/full/10....
Assessment of a Polygenic Risk Score in Screening for Prostate Cancer
www.nejm.org/doi/full/10....
Genomewide study makes ‘quantum leap’ in understanding stuttering @science.org
www.science.org/content/arti...
Large-scale genome-wide analyses of stuttering
www.nature.com/articles/s41...
@natgenet.nature.com
www.science.org/content/arti...
Large-scale genome-wide analyses of stuttering
www.nature.com/articles/s41...
@natgenet.nature.com
July 31, 2025 at 6:51 PM
Genomewide study makes ‘quantum leap’ in understanding stuttering @science.org
www.science.org/content/arti...
Large-scale genome-wide analyses of stuttering
www.nature.com/articles/s41...
@natgenet.nature.com
www.science.org/content/arti...
Large-scale genome-wide analyses of stuttering
www.nature.com/articles/s41...
@natgenet.nature.com
Musing here in London on this windy weekend. At a research level I have long had a powerful hammer in research - genetics. If you could cast a problem in a genetic framework - ie, measuring a phenotype in a large population of genotyped individuals - you could get insight, surveying "genomewide"
November 24, 2024 at 6:09 PM
Musing here in London on this windy weekend. At a research level I have long had a powerful hammer in research - genetics. If you could cast a problem in a genetic framework - ie, measuring a phenotype in a large population of genotyped individuals - you could get insight, surveying "genomewide"
V2P (variant-to-phenotype) is live: nature.com/articles/s41...
To our knowledge, first genomewide SNVs+indels model jointly predicting pathogenicity + disease domain (23 HPO groups; e.g. cardiac/immune/metabolic).
Great work by David Stein in collaboration with @schlessingerlab.bsky.social
To our knowledge, first genomewide SNVs+indels model jointly predicting pathogenicity + disease domain (23 HPO groups; e.g. cardiac/immune/metabolic).
Great work by David Stein in collaboration with @schlessingerlab.bsky.social
December 15, 2025 at 6:02 PM
V2P (variant-to-phenotype) is live: nature.com/articles/s41...
To our knowledge, first genomewide SNVs+indels model jointly predicting pathogenicity + disease domain (23 HPO groups; e.g. cardiac/immune/metabolic).
Great work by David Stein in collaboration with @schlessingerlab.bsky.social
To our knowledge, first genomewide SNVs+indels model jointly predicting pathogenicity + disease domain (23 HPO groups; e.g. cardiac/immune/metabolic).
Great work by David Stein in collaboration with @schlessingerlab.bsky.social
timber quality and genotype them (genomewide) and from this infer the best genotype for timber production based on existing variation. then you either multimultiplex crispr engineer that or else breed for the genotype. no doubt someone knows about slapping no holds barred transgenes in there to
February 4, 2026 at 6:26 PM
timber quality and genotype them (genomewide) and from this infer the best genotype for timber production based on existing variation. then you either multimultiplex crispr engineer that or else breed for the genotype. no doubt someone knows about slapping no holds barred transgenes in there to
📣 New Publication:
Twenty Years of Genomewide Association Studies
👉 Read the “News & Views” in @nature.com:
🔗 t1p.de/s7hi5
@elezeggini.bsky.social
Twenty Years of Genomewide Association Studies
👉 Read the “News & Views” in @nature.com:
🔗 t1p.de/s7hi5
@elezeggini.bsky.social
April 16, 2025 at 7:04 AM
📣 New Publication:
Twenty Years of Genomewide Association Studies
👉 Read the “News & Views” in @nature.com:
🔗 t1p.de/s7hi5
@elezeggini.bsky.social
Twenty Years of Genomewide Association Studies
👉 Read the “News & Views” in @nature.com:
🔗 t1p.de/s7hi5
@elezeggini.bsky.social
Genomewide study makes ‘quantum leap’ in understanding #stuttering
#23andMe
#DNA
rhythm processing deficit
buff.ly/2lQ9hhw
#23andMe
#DNA
rhythm processing deficit
buff.ly/2lQ9hhw
July 28, 2025 at 6:55 PM
Genomewide study makes ‘quantum leap’ in understanding #stuttering
#23andMe
#DNA
rhythm processing deficit
buff.ly/2lQ9hhw
#23andMe
#DNA
rhythm processing deficit
buff.ly/2lQ9hhw
Yes, that’s my hazy recollection. The plotting style appears in papers going back to at least 2004, often called “genomewide scan”, which itself was borrowed from linkage papers. Makes sense that a height paper might’ve been first published usage, since they got the most skyscrapers early on. 🏙️
July 28, 2025 at 5:48 PM
Yes, that’s my hazy recollection. The plotting style appears in papers going back to at least 2004, often called “genomewide scan”, which itself was borrowed from linkage papers. Makes sense that a height paper might’ve been first published usage, since they got the most skyscrapers early on. 🏙️
📖 Wer wie Billy aus Es stottert, trägt keine „Schwäche“ in sich. Die neue Forschung zeigt: Stottern ist genetisch mitbedingt; und damit weder Schuld noch Makel.
🔗 www.science.org/doi/... 🧪
➡️ Folgt @LorenzAdlung.com für mehr interessante News! 🤓
🏁
10/10
🔗 www.science.org/doi/... 🧪
➡️ Folgt @LorenzAdlung.com für mehr interessante News! 🤓
🏁
10/10
Genomewide study makes ‘quantum leap’ in understanding stuttering
Analysis of DNA from 23andMe users points to variants in genes linked to brain function and sense of rhythm
www.science.org
August 7, 2025 at 6:35 PM
📖 Wer wie Billy aus Es stottert, trägt keine „Schwäche“ in sich. Die neue Forschung zeigt: Stottern ist genetisch mitbedingt; und damit weder Schuld noch Makel.
🔗 www.science.org/doi/... 🧪
➡️ Folgt @LorenzAdlung.com für mehr interessante News! 🤓
🏁
10/10
🔗 www.science.org/doi/... 🧪
➡️ Folgt @LorenzAdlung.com für mehr interessante News! 🤓
🏁
10/10
The phylogeny of the #Triticeae: Resolution & #phylogenetic conflict based on genomewide nuclear loci
New #AJB research by Roberta Mason-Gamer & Dawson White
doi.org/10.1002/ajb2... #botany
New #AJB research by Roberta Mason-Gamer & Dawson White
doi.org/10.1002/ajb2... #botany
September 16, 2024 at 4:14 PM
The phylogeny of the #Triticeae: Resolution & #phylogenetic conflict based on genomewide nuclear loci
New #AJB research by Roberta Mason-Gamer & Dawson White
doi.org/10.1002/ajb2... #botany
New #AJB research by Roberta Mason-Gamer & Dawson White
doi.org/10.1002/ajb2... #botany
#ESHG2025 Stat Gen: Zheng talking about genomewide fine mapping approaches - idea is to improve upon existing methods. Previosuly SBayesRC method has been extended to do this. It provides local credible sets, and global ones also and attempts to predict power for future studies.
May 24, 2025 at 5:07 PM
#ESHG2025 Stat Gen: Zheng talking about genomewide fine mapping approaches - idea is to improve upon existing methods. Previosuly SBayesRC method has been extended to do this. It provides local credible sets, and global ones also and attempts to predict power for future studies.
Interested in #epigenetics #genomewide #screen #glioblastoma #braintumours? Check out this exciting opportunity to join us @blizardinstitute.bsky.social @qmul.ac.uk
Postdoctoral Research Associate at Queen Mary University of London
Apply for the Postdoctoral Research Associate role on jobs.ac.uk, the top job board for academic positions in higher education. View details and apply now.
www.jobs.ac.uk
March 4, 2025 at 5:01 PM
Interested in #epigenetics #genomewide #screen #glioblastoma #braintumours? Check out this exciting opportunity to join us @blizardinstitute.bsky.social @qmul.ac.uk
Our data resource profile paper outlining the imputed & QC'd genomewide genetic data in 5 British cohort studies is now out in IJE. Data are free to access and the cohorts are deeply phenotyped... huge opportunities for amazing cross-cohort longitudinal research
academic.oup.com/ije/article/...
academic.oup.com/ije/article/...
Data Resource Profile: Genomic data in multiple British birth cohorts (1946–2001)—linkage with health, social, and environmental data from birth to old age
Birth cohort studies have a rich history of contributing to science within and between disciplinary fields, notably health and social sciences [1–4]. Here,
academic.oup.com
September 3, 2025 at 11:38 AM
Our data resource profile paper outlining the imputed & QC'd genomewide genetic data in 5 British cohort studies is now out in IJE. Data are free to access and the cohorts are deeply phenotyped... huge opportunities for amazing cross-cohort longitudinal research
academic.oup.com/ije/article/...
academic.oup.com/ije/article/...
The work represents a “quantum leap” in the field, says Gregory Snyder, a speech scientist at the University of Mississippi who himself stutters. 🧪🧬
www.science.org/content/arti...
www.science.org/content/arti...
Genomewide study makes ‘quantum leap’ in understanding stuttering
Analysis of DNA from 23andMe users points to variants in genes linked to brain function and sense of rhythm
www.science.org
July 28, 2025 at 7:03 PM
The work represents a “quantum leap” in the field, says Gregory Snyder, a speech scientist at the University of Mississippi who himself stutters. 🧪🧬
www.science.org/content/arti...
www.science.org/content/arti...
When bacterial genomes were first sequenced, low levels of dN/dS predominated, suggesting purifying selection. But as more closely related organisms started being sequenced in the early 2000s, high dN/dS (~1) values were observed genomewide.
September 18, 2023 at 2:58 AM
When bacterial genomes were first sequenced, low levels of dN/dS predominated, suggesting purifying selection. But as more closely related organisms started being sequenced in the early 2000s, high dN/dS (~1) values were observed genomewide.
“A team used ancient DNA to generate genomewide data for 135 people uncovered across 11 archaeological sites…combined the genetic data with archaeological evidence to form an understanding of how the individuals…represented the growth and change of their populations.”
September 21, 2026 at 3:29 PM
“A team used ancient DNA to generate genomewide data for 135 people uncovered across 11 archaeological sites…combined the genetic data with archaeological evidence to form an understanding of how the individuals…represented the growth and change of their populations.”
What’s the utility of genomewide association studies in driving pharmacological treatments of psychiatric disorders? Not much. Via @jama.com Psychiatry. jamanetwork.com/journals/jam...
Linking GWAS to Treatment Targets for Psychiatric Disorders
This study investigates whether genes targeted by current treatments for psychiatric disorders match genetic variation identified through genome-wide association studies (GWAS) and what bioinformatic ...
jamanetwork.com
December 14, 2024 at 4:04 PM
What’s the utility of genomewide association studies in driving pharmacological treatments of psychiatric disorders? Not much. Via @jama.com Psychiatry. jamanetwork.com/journals/jam...
Compared to Goteborg 2 screening (PSA then MRI; NEJM) and PROSCREEN (PSA then marker then MRI; JAMA), BARCODE PRS based screening found fewer significant cancers (grade group 2+), more insignificant cancer and biopsied more men (the trifecta!).
www.nejm.org/doi/full/10....
www.nejm.org/doi/full/10....
Assessment of a Polygenic Risk Score in Screening for Prostate Cancer | NEJM
The incidence of prostate cancer is increasing. Screening with an assay of prostate-specific antigen (PSA) has a high rate for false positive results. Genomewide association studies have identified...
www.nejm.org
April 10, 2025 at 12:18 AM
Compared to Goteborg 2 screening (PSA then MRI; NEJM) and PROSCREEN (PSA then marker then MRI; JAMA), BARCODE PRS based screening found fewer significant cancers (grade group 2+), more insignificant cancer and biopsied more men (the trifecta!).
www.nejm.org/doi/full/10....
www.nejm.org/doi/full/10....
Interested to learn about Genomewide Association Studies in Alzheimer's Disease? Join us tomorrow. Sing up here: alz-org.zoom.us/webinar/regi...
March 20, 2025 at 10:35 AM
Interested to learn about Genomewide Association Studies in Alzheimer's Disease? Join us tomorrow. Sing up here: alz-org.zoom.us/webinar/regi...
A genomewide study of 1.1 million people represents a quantum leap in understanding stuttering. Researchers identified 57 new DNA regions linked to the condition, reinforcing it as a heritable, neurological trait with ties to rhythm processing.
#MedSky 🧬💻
#MedSky 🧬💻
Genome-wide study makes ‘quantum leap’ in understanding stuttering
Analysis of DNA from 23andMe users points to variants in genes linked to brain function and sense of rhythm
www.science.org
July 29, 2025 at 1:57 PM
A genomewide study of 1.1 million people represents a quantum leap in understanding stuttering. Researchers identified 57 new DNA regions linked to the condition, reinforcing it as a heritable, neurological trait with ties to rhythm processing.
#MedSky 🧬💻
#MedSky 🧬💻